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Condition: Cardiomyopathy
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Total 870 results found since Jan 2013.
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants
We report the first case of concurrent pathogenic variants in both MYBPC3 and VCP that led to earlier onset of congestive heart failure with features of hypertrophic cardiomyopathy. Cardiomyopathy has previously been associated with VCP inclusion body myopathy mostly at an advanced stage of the disease. Due to acute onset of cardiomyopathy in a previous asymptomatic individual, a cardiomyopathy gene panel was obtained which revealed an additional c.177_187del variant of the MYBPC3 gene. We report a first case of concurrent pathogenic variants in both c.177_187del gene of MYBPC3 and p.R155C VCP that led to earlier onset and...
Source: European Journal of Medical Genetics - March 20, 2022 Category: Genetics & Stem Cells Authors: Nicole Choy Stephani Wang Pablo Abbona Dale Leffler Virginia Kimonis Source Type: research
Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome
AbstractBarth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects inTAFAZZIN, a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factors predicting outcome are unknown. Therefore, we conducted a longitudinal observational study to determine risk factors for outcome in BTHS. Subjects with minimum two evaluations (or one followed by death or transplant) were included. Cardiac size, function, and QTc data were measured by echocardiography and electrocardiogr...
Source: Pediatric Cardiology - March 3, 2022 Category: Cardiology Source Type: research
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age
We report the case of a 16-year-old male who at 4 years of age presented with a hypertrophic obstructive cardiomyopathy, then developed axonal sensory motor polyneuropathy, muscle weakness, rigid spine, severe kyphoscoliosis and respiratory failure. Muscle biopsy showed the typical hallmark of myofibrillar myopathy with abnormal cytoplasmic expression of multiple proteins. Ade novo heterozygous common mutation in the BAG3 gene with a c.626C > T (p.Pro209Leu) was discovered on NGS genetic analysis. Mutations in the BAG3 gene are causes of a severe and progressive condition and natural history data are important to be col...
Source: Acta Myologica - January 20, 2022 Category: Neurology Authors: Gaia Scarpini Maria Lucia Valentino Melania Giannotta Luca Ragni Annalaura Torella Marta Columbaro Vincenzo Nigro Antonella Pini Source Type: research
